Histological skin changes in heterozygote carriers of mutations in <i>ABCC6</i>, the gene causing pseudoxanthoma elasticum

Abstract

Even though the number of individuals studied here is small and precludes any hasty generalization, having a single mutation in the ABCC6 gene seems enough to modify dermal elastic fibres. The relevance of performing a skin biopsy to identify heterozygote carriers in the family of a PXE patient remains to be determined.